Anchored?

On Friday I wrote about losing Austin’s neurologist to the state of Texas. I felt that our anchor was gone. I know we have a VERY capable neuro who Austin sees locally, I just have yet to form the same ‘connection’ with her. On Friday we took Connor to see her. She is very interested in the fact that we have two children with neurological issues.

She was amazed at Connor’s progress with his PDD-NOS. She used her favorite analogy that if she saw Connor in a grocery store, it wouldn’t be obvious that he had any issues or that he was any different from his twin. This is directly in line with Connor’s year end review at his school. He has met all his IEP (Individualized Education Plan) goals for the year. While I am ecstatic, I am also cautious. We have been there before with Austin, only to see regression or plateauing occur. The school agrees and recommends full services next year. Dr Kang said the same things essentially. That while from a causal observer stand-point he is fantastic, on a close neurological exam, the disease is evident.

Her recommendation at this point is further genetics testing to try and tie Austin and Connor together. Perhaps they both have a gene mutation that is manifesting in different ways. We have seen a geneticist here at Albany Med, and while they also agree that two kids within a family having neurological issues is suspect, they aren’t searching them for the same things. I have mostly been fixating on the gene mutation that both Austin and my husband Jeff have, therefore passed down the Y chromosome. The geneticist feels it is not the cause and has looked elsewhere. But as yet, two years down the road we just have more questions and no answers.

I presented all the same familial history to Dr Kang. When I mentioned that I have a cousin on my paternal line whose son also has PDD-NOS, a light went on. She started suggestion perhaps it is the X gene and not the Y as I have been focusing on. She asked if we’d be willing to seek a second opinion from a geneticist at her hospital, Montefiore in NYC. Personally, I want answers and I don’t care where we have to look for them. However, once she realized who we have for insurance, she pointed out that they have been denying requests for second opinions out of network. We know this already because they have been denying Austin’s visits to Boston Children’s. Dr Kang suggested that we wait until Connor’s Medicaid is in place. So for now we wait. He has already received waiver approval and his application is now in the Medicaid office waiting approval. I hope within the next two months things should be set.

Last week I was feeling adrift, but I think Dr Kang has proven that she will be our anchor. I look forward to forming a strong connection with her and hope she helps guide us down a path of answers and solutions.